Agenome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke

Blood

Volumn 120, Issue 26, 2012, Pages 5231-5236

  Arning, Astrid ^a   Hiersche, Milan ^a   Witten, Anika ^a   Kurlemann, Gerhard ^b   Kurnik, Karin ^c   Manner, Daniela ^d   Stoll, Monika ^a   Nowak Göttl, Ulrike ^d  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

METALLOPROTEINASE; ADAM PROTEIN;

ADAMTS12 GENE; ADAMTS13 GENE; ADAMTS17 GENE; ADAMTS2 GENE; ADULT; ALLELE; ARTICLE; CEREBROVASCULAR ACCIDENT; CHILD; CHILDHOOD DISEASE; COPY NUMBER VARIATION; GENE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN INTERACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ALGORITHM; FEMALE; GENE REGULATORY NETWORK; GENETICS; INFANT; MALE; METHODOLOGY; ONSET AGE; PHYSIOLOGY; PRESCHOOL CHILD; SYSTEMS BIOLOGY;

ADAM PROTEINS; ADULT; AGE OF ONSET; ALGORITHMS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE REGULATORY NETWORKS; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INFANT; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; STROKE; SYSTEMS BIOLOGY;

EID: 84871491077     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-07-442038     Document Type: Article

References (31)

1. Kirkham FJ, Prengler M, Hewes DK, Ganesan V. Risk factors for arterial ischemic stroke in children. J Child Neurol. 2000;15(5):299-307. (Pubitemid 30341361)
2. Neuner B, von Mackensen S, Krümpel A, et al. Health-related quality of life in children and adolescents with stroke, self-reports, and parent/proxies reports: cross-sectional investigation. Ann Neurol. 2011;70(1):70-78.
3. Haywood S, Liesner R, Pindora S, Ganesan V. Thrombophilia and first arterial ischaemic stroke: a systematic review. Arch Dis Child. 2005;90(4):402-425.
4. Preuss C, Stoll M. Inherited risk factors for thrombotic diseases in children: the genome-wide perspective. Semin Thromb Hemost. 2011;37(7):848-855.
5. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461(7265):747-753.
6. Jia P, Zheng S, Long J, Zheng W, Zhao Z. dmGWAS: dense module searching for genomewide association studies in protein-protein interaction networks. Bioinformatics. 2011;27(1):95-102.
7. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559-575. (Pubitemid 47330214)
8. Voorman A, Lumley T, McKnight B, Rice K. Behavior of QQ-plots and genomic control in studies of gene-environment interaction. PLoS One. 2011;6(5):e19416.
9. Jensen LJ, Kuhn M, Stark M, et al. STRING 8: a global view on proteins and their functional interactions in 630 organisms. Nucleic Acids Res. 2009;37:D412-D416.
10. Goldschmidt-Clermont PJ, Machesky LM, Doberstein SK, Pollard TD. Mechanism of the interaction of human platelet profilin with actin. J Cell Biol. 1991;113(5):1081-1089. (Pubitemid 21909740)
11. Chauhan AK, Motto DG, Lamb CB, et al. Systemic antithrombotic effects of ADAMTS13. J Exp Med. 2006;203(3):767-776.
12. Shenkman B, Budde U, Angerhaus D, et al. ADAMTS-13 regulates platelet under flow. a new method for differentiation between inherited and thrombotic thrombocytopenic purpura. Thromb Haemost. 2006;96(2):160-166. (Pubitemid 44219383)
13. Chauhan AK, Kisucka J, Brill A, et al. ADAMTS13: a new link between thrombosis and inflammation. J Exp Med. 2008;205(9):2065-2074.
14. Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. Hum Mutat. 2010;31(1):11-19.
15. Fujioka M, Hayakawa K, Mishima K, et al. ADAMTS13 gene deletion aggravates ischemic brain damage: a possible neuroprotective role of ADAMTS13 by ameliorating postischemic hypoperfusion. Blood. 2010;115(8):1650-1653.
16. Zhao B-Q, Chauhan AK, Canault M, et al. von Willebrand factor-cleaving protease ADAMTS13 reduces ischemic brain injury in experimental stroke. Blood. 2009;114(15):3329-3334.
17. Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413(6855):488-494. (Pubitemid 32938741)
18. Wang L, Zheng J, Bai X, et al. ADAMTS-7 mediates vascular smooth muscle cell migration and neointima formation in balloon-injured rat arteries. Circ Res. 2009;104(5):688-698.
19. Wain LV, Verwoert GC, O'Reilly PF, et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011;43(10):1005-1011.
20. Reilly MP, Li M, He J, et al. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genomewide association studies. Lancet. 2011;377(9763): 383-392.
21. Li Z, Nardi MA, Li Y-S, et al. C-terminal ADAMTS-18 fragment induces oxidative platelet fragmentation, dissolves platelet aggregates, and protects against carotid artery occlusion and cerebral stroke. Blood. 2009;113(24):6051-6060.
22. Dubail J, Kesteloot F, Deroanne C, et al.ADAMTS-2 functions as anti-angiogenic and anti-tumoral molecule independently of its catalytic activity. Cell Mol Life Sci. 2010;67(24):4213-4232.
23. El Hour M, Moncada-Pazos A, Blacher S, et al. Higher sensitivity of ADAMTS12-deficient mice to tumor growth and angiogenesis. Oncogene. 2010;29(20):3025-3032.
24. Morrison AC, Felix JF, Cupples LA, et al. Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. Circ Cardiovasc Genet. 2010;3(3):248-255.
25. Neuss H, Huang X, Hetfeld BKJ, et al. The ubiquitin- and proteasome-dependent degradation of COX-2 is regulated by the COP9 signalosome and differentially influenced by coxibs. J Mol Med. 2007;85(9):961-970. (Pubitemid 47282790)
26. Gibson G. Rare and common variants: twenty arguments. Nat Rev Genet. 2011;13(2):135-145.
27. Canobbio I, Stefanini L, Cipolla L, et al. Genetic evidence for a predominant role of pi3kbeta catalytic activity in ITAM- and integrin-mediated signaling in platelets. Blood. 2009;114(10):2193-2196.
28. Bird JE, Smith PL, Bostwick JS, Shipkova P, Schumacher WA. Bleeding response induced by anti-thrombotic doses of a phosphoinositide 3-kinase (PI3K)-03b2 inhibitor in mice. Thromb Res. 2011;127(6):560-564.
29. Jeansson M, Gawlik A, Anderson G, et al. Angiopoietin-1 is essential in mouse vasculature during development and in response to injury. J Clin Invest. 2011;121(6):2278-2289.
30. Lamping KG, Wess J, Cui Y, Nuno DW, Faraci FM. Muscarinic (m) receptors in coronary circulation: gene-targeted mice define the role of m2 and m3 receptors in response to acetylcholine. Arterioscler Thromb Vasc Biol. 2004;24(7):1253-1258. (Pubitemid 38880017)
31. Luke MM, O'Meara ES, Rowland CM, et al. Gene variants associated with ischemic stroke: the cardiovascular health study. Stroke. 2009;40(2):363-368.